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STRs in panel
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COVID-19 research

Gene: TIRAP

Green List (high evidence)

TIRAP (TIR domain containing adaptor protein)
EnsemblGeneIds (GRCh38): ENSG00000150455
EnsemblGeneIds (GRCh37): ENSG00000150455
OMIM: 606252, Gene2Phenotype
TIRAP is in 3 panels

2 reviews

Sophie Hambleton (Newcastle University)

Red List (low evidence)

Incomplete penetrance
Created: 11 Jun 2018, 12:40 p.m.

Publications

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): TIRAP .PanelApp HGNC gene symbol check: TIRAP . IUIS Disease: TIRAP deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: Lymphocytes + Granulocytes+ Monocytes. IUIS Associated features: Staphylococcal disease during childhood. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: TLR Signaling Pathway Deficiency with Bacterial Susceptibility
Created: 2 Jul 2018, 10:35 a.m.
External expert review notes Red status and Incomplete penetrance , so I have kept this gene Red on this panel until further evidence
Created: 13 Jun 2018, 10:14 a.m.
Comment on publications: Added publications suggested from external expert review
Created: 13 Jun 2018, 10:14 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: TIRAP, PanelApp HGNC gene symbol check: TIRAP, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Defects in innate immunity / Defects of TLR/NFkappa-B signalling / Defects of TLR/NFkappa-B signalling
Created: 17 Apr 2018, 12:29 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Staphylococcal disease during childhood
  • Defects of TLR/NFkappa-B signalling
  • TIRAP deficiency
  • Defects in intrinsic and innate immunity
  • Defects in Intrinsic and Innate Immunity
OMIM
606252
Clinvar variants
Variants in TIRAP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to TIRAP. Added phenotypes Staphylococcal disease during childhood; Defects of TLR/NFkappa-B signalling; TIRAP deficiency; Defects in intrinsic and innate immunity; Defects in Intrinsic and Innate Immunity for gene: TIRAP Rating Changed from Red List (low evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: TIRAP was added gene: TIRAP was added to Viral susceptibility. Sources: Expert Review Red,ESID Registry 20171117,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: TIRAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TIRAP were set to 32086639; 32048120; 28235196 Phenotypes for gene: TIRAP were set to Staphylococcal disease during childhood; Defects of TLR/NFkappa-B signalling; TIRAP deficiency; Defects in intrinsic and innate immunity; Defects in Intrinsic and Innate Immunity